Mosaicism in human skin
Mosaicism in human skin
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人体皮肤的马赛克现象
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发表时间：
1999
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影响因子：
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通讯作者：
Isaak Effendy
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作者：
Isaak Effendy
1998年5月，在鲁道夫·哈普尔六十岁生日之际，在德国马尔堡召开了关于人类皮肤马赛克现象的国际研讨会。以下文章集来自该事件，介绍了马赛克皮肤病的现有知识。从这些论文中可以明显看出，鲁道夫·哈普尔的想法和概念对理解遗传决定的皮肤病，更重要的是对临床遗传学的一般领域做出了重要贡献。如今，遗传思维在临床医学中的重要性已是显而易见的事实，但当我 1982 年开始担任皮肤科住院医师时，在我看来，遗传性皮肤病只是每本皮肤科教科书中的一个很好的附录。对我来说——也许对当时我的大多数临床同事来说——基因皮肤病只是少数爱好者的事情，对我们的职业来说没有重大意义。就在那时，鲁道夫·哈普尔写了第一篇关于他对布拉什科台词的思考的论文。后来，他加深了我们对其他痣皮肤病的遗传学的理解，引入了诸如CHILD综合征和MIDAS综合征等新术语，并发展了通过嵌合体、人类皮肤双斑、某些痣的副显性遗传以及常染色体显性皮肤病节段性表现的二分类型而生存的致命突变的概念。因此，鲁道夫·哈普尔仅凭直觉就撰写了许多临床遗传学领域的里程碑式论文。他从神秘的皮肤现象海洋中，在不使用任何 FISH 技术的情况下发现了重要的新想法。随后，其他小组进行的分子研究迄今为止在很大程度上证实了他的概念。我很荣幸能够组织马尔堡研讨会以纪念鲁道夫·哈普尔，我希望《美国医学遗传学杂志》的读者会喜欢目前有关人类皮肤嵌合现象的论文。
In May 1998, an international symposium on Mosaicism in Human Skin was held in Marburg, Germany, on the occasion of the sixtieth birthday of Rudolf Happle. The following collection of articles emerged from this event and gives an account of the present knowledge of mosaic skin disorders. From these papers it will become evident that the ideas and concepts of Rudolf Happle represent an important contribution to the understanding of genetically determined skin diseases and, more importantly, to the general field of clinical genetics. Today, the significance of genetic thinking in clinical medicine is an obvious fact, but when I began my residency in dermatology in 1982 it appeared to me that genetic skin diseases were just a nice appendix in each dermatology textbook. To me—and probably to most of my clinical colleagues at that time—genodermatoses were something for some few aficionados and of no major significance for our profession. It was just at that time that Rudolf Happle wrote a first paper on his thinking regarding the lines of Blaschko. Later on he deepened our understanding of the genetics of other nevoid skin disorders, introduced new terms such as CHILD syndrome and MIDAS syndrome, and developed the concepts of lethal mutations surviving by mosaicism, twin spotting in human skin, paradominant inheritance of certain nevi, and the dichotomous types of segmental manifestations of autosomal dominant skin disorders. Thus, Rudolf Happle has written many landmark papers in clinical genetics by simply using his intuition. From a sea of enigmatic cutaneous phenomena, he fished important new ideas without using any FISH technique. Subsequently, molecular research performed by other groups has so far largely confirmed his concepts. It was a privilege for me to organize the Marburg symposium in honor of Rudolf Happle, and I hope that the readers of the American Journal of Medical Genetics will enjoy the present papers on mosaicism in human skin.